Succinyl-CoA: 3-Oxoacid-CoA Transferase Deficiency

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SCOT Deficiency is an inherited metabolic disorder caused by a problem in the OXCT1 gene. This gene provides instructions for an enzyme called succinyl-CoA:3-ketoacid CoA transferase (SCOT). The SCOT enzyme is needed to enable your body to break down ketones efficiently. Ketones are made in the liver when your body breaks down fats. They are needed as an energy source, especially during long periods without food or times when your body needs more energy.

If you have SCOT Deficiency, the enzyme is missing, or you do not produce enough of it. Your body is unable to break down the ketones and therefore you cannot use them as an energy source, reducing energy production and causing the ketones build up in the blood. This leads to episodes of ketoacidosis, sometimes called ketoacidotic attacks.

We do not know how common this condition is. There have been over 30 cases reported.

This condition is characterised by episodes of ketoacidosis, or ketoacidotic attacks. The term ‘ketoacidosis’ means ‘a build up of ketones in the body’. Symptoms of ketoacidosis include:

• Breathing problems
• Poor feeding
• Vomiting
• Lethargy
• Seizures (occasionally)

If left untreated, these episodes can progress to a coma. Severe attacks can be fatal. The frequency of attacks varies.

If you have this condition you are likely to always have a high level of ketones in your blood. However, the level can become too high if you have an infection, illness, or go for long periods without food, and this can trigger an attack. The first attack usually occurs within the first few days following birth. However, symptoms can begin anytime within the first year of life. Other than poor feeding and failure to grow or gain weight prior to diagnosis, there are no other symptoms other than ketoacidosis. In some rare cases, heart problems may occur.

This condition can be diagnosed using specialised blood and urine tests. Enzyme activity can be measured using blood cells. Genetic testing can confirm the diagnosis. Prenatal diagnosis may be available if there is a known history of the condition in the family.

Humans have chromosomes composed of DNA. Genes are pieces of DNA that carry the genetic instruction. Each chromosome may have several thousand genes. We inherit particular chromosomes from the egg of the mother and sperm of the father. The genes on those chromosomes carry the instructions that determine a person’s characteristics, which are a combination of the parents.

This is an inherited condition. There is nothing that could have been done to prevent it.

Everyone has a pair of genes that are needed to produce the SCOT enzyme. If you have this condition, neither of these genes works correctly. You will inherit one non-working gene from each parent.

Parents of children with this condition are known as carriers. Carriers do not have the disorder because the other gene of this pair is working correctly.

When both parents are carriers, in each pregnancy the risk to the baby is as follows:

• 25% chance (1 in 4) of developing the condition
• 50% chance (1 in 2) for the baby to be a carrier
• 25% chance (1 in 4) for the baby to have two working genes and neither have the condition, nor be a carrier

References are available on request. Please contact us on 0800 652 3181 or by emailing contact@metabolicsupport.org.

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This information about metabolic diseases is provided by Metabolic Support UK and is intended for educational purposes only. It should not be used for diagnostic or treatment purposes.

Should you require more detailed information please contact Metabolic Support UK by email (contact@metabolicsupport.org) or by telephone ( 0800 652 3181). For specific medical information regarding a disorder or individual please contact your GP or Paediatrician. Metabolic Support UK accepts no responsibility for any errors or omissions nor does Metabolic Support UK assume any liability of any kind for the content of any information contained within this summary or any use that you may make of it.